Canonical Allele Identifier: CA363502026

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007016G>C (hg19) ; chr6:g.32039239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039239G>C , CM000668.2:g.32039239G>C	GRCh38
NC_000006.11:g.32007016G>C , CM000668.1:g.32007016G>C	GRCh37
NC_000006.10:g.32114995G>C	NCBI36
NG_007941.2:g.5932G>C
NG_008337.2:g.75136C>G
NG_007941.3:g.5935G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.438G>C MANE Select	ENSP00000496625.1:p.Glu146Asp
ENST00000418967.6:c.438G>C	ENSP00000408860.2:p.Glu146Asp
ENST00000435122.3:c.348G>C	ENSP00000415043.2:p.Glu116Asp
ENST00000462278.1:n.26G>C
ENST00000464325.5:n.359G>C
ENST00000466779.5:c.*130G>C	ENSP00000417321.1:n.*130G>C
ENST00000466879.5:n.489G>C
ENST00000469053.5:c.*130G>C	ENSP00000418104.1:n.*130G>C
ENST00000471671.4:c.438G>C	ENSP00000418561.1:p.Glu146Asp
ENST00000478281.5:c.471G>C	ENSP00000419572.1:p.Glu157Asp
ENST00000479074.5:n.496G>C
ENST00000479730.5:n.593G>C
ENST00000483041.5:n.607G>C
ENST00000486063.5:n.618G>C
ENST00000488465.1:n.446G>C
NM_000500.7:c.438G>C	NP_000491.4:p.Glu146Asp
NM_001128590.3:c.348G>C	NP_001122062.3:p.Glu116Asp
XM_011514314.1:c.33G>C	XP_011512616.1:p.Glu11Asp
NM_000500.9:c.438G>C MANE Select	NP_000491.4:p.Glu146Asp
NM_001368143.1:c.33G>C	NP_001355072.1:p.Glu11Asp
NM_001368144.1:c.33G>C	NP_001355073.1:p.Glu11Asp
NM_001128590.4:c.348G>C	NP_001122062.3:p.Glu116Asp
NM_001368143.2:c.33G>C	NP_001355072.1:p.Glu11Asp
NM_001368144.2:c.33G>C	NP_001355073.1:p.Glu11Asp